Incidental Mutation 'R5836:Ptpn12'
ID 449582
Institutional Source Beutler Lab
Gene Symbol Ptpn12
Ensembl Gene ENSMUSG00000028771
Gene Name protein tyrosine phosphatase, non-receptor type 12
Synonyms PTP-PEST, PTP-P19, P19-PTP
MMRRC Submission 043222-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5836 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 21191643-21260909 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 21214544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 197 (W197*)
Ref Sequence ENSEMBL: ENSMUSP00000030556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030556] [ENSMUST00000151813] [ENSMUST00000199774]
AlphaFold P35831
Predicted Effect probably null
Transcript: ENSMUST00000030556
AA Change: W197*
SMART Domains Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: W197*

DomainStartEndE-ValueType
PTPc 27 295 2.14e-126 SMART
Blast:PTPc 338 399 7e-12 BLAST
low complexity region 499 518 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
low complexity region 622 640 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126853
Predicted Effect probably benign
Transcript: ENSMUST00000140057
Predicted Effect probably benign
Transcript: ENSMUST00000151813
Predicted Effect probably benign
Transcript: ENSMUST00000199774
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality, defective embryo turning, improper somitogenesis and vasculogenesis, impaired liver development, truncation of the caudal region and mesenchyme deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G T 17: 36,272,918 (GRCm39) A243D possibly damaging Het
Azin2 C T 4: 128,842,670 (GRCm39) G128D probably damaging Het
Babam1 A G 8: 71,855,687 (GRCm39) E260G probably benign Het
Brwd1 A T 16: 95,865,958 (GRCm39) S275T probably damaging Het
Cd8a T C 6: 71,350,775 (GRCm39) V80A possibly damaging Het
Clec4a3 T C 6: 122,929,861 (GRCm39) F12S possibly damaging Het
Dennd2b A T 7: 109,140,552 (GRCm39) S225T possibly damaging Het
Dnah5 A C 15: 28,383,738 (GRCm39) N2987H probably damaging Het
Dock9 A G 14: 121,918,763 (GRCm39) F78S probably damaging Het
Eml3 A G 19: 8,918,659 (GRCm39) T885A possibly damaging Het
Esr1 T C 10: 4,662,817 (GRCm39) V145A probably benign Het
Gm5108 A G 5: 68,101,953 (GRCm39) probably benign Het
Gpr179 T C 11: 97,229,882 (GRCm39) S758G probably benign Het
Heatr1 T A 13: 12,423,617 (GRCm39) L538Q probably damaging Het
Ikzf2 A G 1: 69,578,546 (GRCm39) I176T probably damaging Het
Lrp3 A G 7: 34,902,747 (GRCm39) V533A probably damaging Het
Nkx2-5 A T 17: 27,058,063 (GRCm39) V297E possibly damaging Het
Or13a19 G A 7: 139,902,827 (GRCm39) V72I probably benign Het
Or2y16 T C 11: 49,335,353 (GRCm39) L225P probably damaging Het
Or8g23 T C 9: 38,971,918 (GRCm39) T15A probably benign Het
Pclo T A 5: 14,728,549 (GRCm39) probably benign Het
Pdgfra T C 5: 75,324,435 (GRCm39) W97R possibly damaging Het
Plekha5 T C 6: 140,372,250 (GRCm39) Y67H probably damaging Het
Plin5 A T 17: 56,422,549 (GRCm39) probably null Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Prickle1 T A 15: 93,400,898 (GRCm39) K529* probably null Het
Ptbp2 G A 3: 119,519,746 (GRCm39) T107I probably damaging Het
Rhobtb1 T C 10: 69,105,819 (GRCm39) V128A probably damaging Het
Ryr2 T C 13: 11,618,618 (GRCm39) T3866A probably damaging Het
Serpina3m T C 12: 104,355,509 (GRCm39) Y59H probably damaging Het
Slc12a6 T C 2: 112,172,343 (GRCm39) V414A possibly damaging Het
Slc34a1 T C 13: 55,561,278 (GRCm39) M581T probably benign Het
Slco1c1 A G 6: 141,515,040 (GRCm39) Y596C probably damaging Het
Stoml1 T C 9: 58,168,123 (GRCm39) L278P probably benign Het
Tecpr2 C T 12: 110,897,945 (GRCm39) A399V possibly damaging Het
Tmem229a T C 6: 24,955,016 (GRCm39) E246G probably damaging Het
Vmn1r224 A T 17: 20,639,953 (GRCm39) I177L probably benign Het
Zswim5 C T 4: 116,842,000 (GRCm39) T860I probably benign Het
Other mutations in Ptpn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Ptpn12 APN 5 21,234,848 (GRCm39) missense probably damaging 1.00
IGL00226:Ptpn12 APN 5 21,203,666 (GRCm39) missense probably damaging 1.00
IGL01432:Ptpn12 APN 5 21,203,553 (GRCm39) nonsense probably null
IGL02285:Ptpn12 APN 5 21,260,711 (GRCm39) missense probably benign 0.40
IGL02488:Ptpn12 APN 5 21,227,060 (GRCm39) missense possibly damaging 0.72
IGL02550:Ptpn12 APN 5 21,203,137 (GRCm39) missense probably benign 0.00
IGL02640:Ptpn12 APN 5 21,224,244 (GRCm39) missense probably damaging 1.00
IGL02652:Ptpn12 APN 5 21,207,435 (GRCm39) missense probably benign 0.04
IGL03130:Ptpn12 APN 5 21,207,610 (GRCm39) unclassified probably benign
R0531:Ptpn12 UTSW 5 21,203,481 (GRCm39) missense possibly damaging 0.53
R0948:Ptpn12 UTSW 5 21,203,041 (GRCm39) missense probably benign
R1018:Ptpn12 UTSW 5 21,234,867 (GRCm39) missense possibly damaging 0.94
R1184:Ptpn12 UTSW 5 21,203,354 (GRCm39) missense possibly damaging 0.86
R1699:Ptpn12 UTSW 5 21,203,168 (GRCm39) missense probably benign 0.01
R1938:Ptpn12 UTSW 5 21,198,261 (GRCm39) missense probably damaging 1.00
R1952:Ptpn12 UTSW 5 21,203,308 (GRCm39) missense probably benign 0.34
R2152:Ptpn12 UTSW 5 21,207,466 (GRCm39) missense probably damaging 1.00
R2153:Ptpn12 UTSW 5 21,207,466 (GRCm39) missense probably damaging 1.00
R2154:Ptpn12 UTSW 5 21,207,466 (GRCm39) missense probably damaging 1.00
R2267:Ptpn12 UTSW 5 21,203,409 (GRCm39) missense probably damaging 0.98
R2358:Ptpn12 UTSW 5 21,203,690 (GRCm39) missense probably damaging 1.00
R3551:Ptpn12 UTSW 5 21,194,047 (GRCm39) missense possibly damaging 0.67
R3931:Ptpn12 UTSW 5 21,206,321 (GRCm39) missense probably benign 0.00
R4013:Ptpn12 UTSW 5 21,197,741 (GRCm39) missense probably benign 0.05
R4039:Ptpn12 UTSW 5 21,207,508 (GRCm39) nonsense probably null
R4501:Ptpn12 UTSW 5 21,224,278 (GRCm39) missense probably damaging 1.00
R4748:Ptpn12 UTSW 5 21,210,383 (GRCm39) nonsense probably null
R4754:Ptpn12 UTSW 5 21,203,587 (GRCm39) missense probably benign 0.34
R4963:Ptpn12 UTSW 5 21,220,706 (GRCm39) splice site probably null
R5160:Ptpn12 UTSW 5 21,202,829 (GRCm39) missense probably damaging 1.00
R5581:Ptpn12 UTSW 5 21,220,724 (GRCm39) missense probably damaging 1.00
R5789:Ptpn12 UTSW 5 21,194,013 (GRCm39) missense possibly damaging 0.92
R6383:Ptpn12 UTSW 5 21,192,466 (GRCm39) nonsense probably null
R6883:Ptpn12 UTSW 5 21,260,711 (GRCm39) missense probably benign 0.40
R7544:Ptpn12 UTSW 5 21,214,509 (GRCm39) missense probably damaging 1.00
R7885:Ptpn12 UTSW 5 21,203,523 (GRCm39) missense possibly damaging 0.54
R7915:Ptpn12 UTSW 5 21,214,449 (GRCm39) missense probably damaging 1.00
R7960:Ptpn12 UTSW 5 21,260,687 (GRCm39) missense probably benign 0.01
R7976:Ptpn12 UTSW 5 21,207,631 (GRCm39) nonsense probably null
R8032:Ptpn12 UTSW 5 21,203,041 (GRCm39) missense probably benign
R8224:Ptpn12 UTSW 5 21,203,656 (GRCm39) missense probably damaging 1.00
R8473:Ptpn12 UTSW 5 21,203,357 (GRCm39) missense probably benign 0.00
R8823:Ptpn12 UTSW 5 21,203,621 (GRCm39) missense probably damaging 1.00
R9375:Ptpn12 UTSW 5 21,224,212 (GRCm39) missense probably benign 0.21
R9613:Ptpn12 UTSW 5 21,203,621 (GRCm39) missense probably damaging 1.00
R9707:Ptpn12 UTSW 5 21,207,620 (GRCm39) missense probably damaging 0.99
X0004:Ptpn12 UTSW 5 21,224,294 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGGTCTTATTCTCAAACACAC -3'
(R):5'- GACGTGGAATACATAGCTTACAAG -3'

Sequencing Primer
(F):5'- CACACCATAACAGGGCTAGG -3'
(R):5'- GTCTTCAGACACACCGGTAGAG -3'
Posted On 2016-12-20